A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15857776



Internal ID2511567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45979735..45993208hg38UCSC Ensembl
Innerchr18:45979785..45993158hg38UCSC Ensembl
Outerchr18:45979658..45993285hg38UCSC Ensembl
chr18:43559701..43573174hg19UCSC Ensembl
Innerchr18:43559751..43573124hg19UCSC Ensembl
Outerchr18:43559624..43573251hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3813474
hg1913474
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3642419
Supporting Variants
SamplesHG02231
Known GenesPSTPIP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15857776
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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